P93S (p.Pro93Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
P93S (p.Pro93Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of X-linked MECP2-related disorders; Severe neonatal-onset encephalopathy with micr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- rs61754447
- ClinGen CA270313
- ClinVar RCV000133046
- ClinVar RCV005089656
- Conflicting interpretations
- X-linked MECP2-related disorders; Severe neonatal-onset encephalopathy with micr
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Conflicting classifications of pathogenicity (X-linked MECP2-related disorders; Severe neonatal-onset encephal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)